Symbol: Name: ID: |
WBSCR17 Williams-Beuren syndrome chromosome region 17 GFS:5468 |
Gene name: | WBSCR17 |
Chromosome: | 7q11.23 |
Previous Symbols: | |
Previous Names: | |
Aliases: | GALNTL3 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2137594 | Rat Genome Database ID: | RGD:1563452 |
HGNC ID: | HGNC:16347 | RefSeq IDs: | NM_022479 |
Entrez Gene ID: | 64409 | Ensembl Gene ID: | ENSG00000185274 |
VEGA IDs: | OTTHUMG00000129783 | UniProt ID: | Q6IS24 |
UCSC ID: | uc003tvy.2 | OMIM ID: | |
Pubmed: | PMID12073013 PMID 15744064 | ||
CCDS IDs: | CCDSCCDS5540.1 |
Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 is an enzyme that in humans is encoded by the WBSCR17 gene.
This gene encodes an N-acetylgalactosaminyltransferase, which has 97% sequence identity to the mouse protein. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Jul 2008].
Function: May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (By similarity).
Products for WBSCR17 gene
Catalog | Product Name | Application | Company |
GFS:E05468 | Williams-Beuren syndrome chromosome region 17; ELISA kit | ELISA | n/a |
GFS:A05468 | Williams-Beuren syndrome chromosome region 17; Anti | ANTIBODIES | n/a |
GFS:P05468 | Williams-Beuren syndrome chromosome region 17; Protien | Protien | n/a |